Myology research highlights
RSS feedOverlap of clinical-genetic features in spinal bulbar muscular atrophy
This study aimed to characterise the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. The authors created a national register for SBMA in the United Kingdom and recruited … [Read more]
Anti-HMGCR autoantibodies in European patients with necrotizing autoimmune myopathies
Necrotizing autoimmune myopathy (NAM) is a group of acquired myopathies characterized by prominent myofiber necrosis with little or no muscle inflammation. Recently, researchers identified autoantibodies (aAb) against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) in patients with NAM, especially in statin-exposed patients. Here, the authors report what is to their knowledge, the first European cohort of patients with … [Read more]
Effect of 2-year steroid treatment on body composition in Duchenne muscular dystrophy
Steroids are nowadays routinely used as a long-term treatment in Duchenne muscular dystrophy (DMD). Their effects on body composition were assessed using dual X-ray absorptiometry. This study followed over 2 years 29 genetically confirmed DMD patients: 21 in the steroid-treated group and 8 in the steroid-naïve group. After 2 years of steroid treatment, the lean … [Read more]
Complementary and alternative medicine for Duchenne and Becker Muscular Dystrophies
Complementary and alternative medicine is frequently used in the management of chronic pediatric diseases, but little is known about its use by those with Duchenne or Becker muscular dystrophy. Complementary and alternative medicine use by male patients with Duchenne or Becker muscular dystrophy and associations with characteristics of male patients and their caregivers were examined … [Read more]
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations
The alpha-dystroglycanopathies are genetically heterogeneous muscular dystrophies that result from hypoglycosylation of alpha-dystroglycan (α-DG). Alpha-dystroglycan is an essential link between the extracellular matrix and the muscle fiber sarcolemma, and proper glycosylation is critical for its ability to bind to ligands in the extracellular matrix. Here, the authors sought to identify the genetic basis of alpha-dystroglycanopathy … [Read more]
First meta-analysis of worldwide prevalence estimates for muscular dystrophies
The muscular dystrophies are a broad group of hereditary muscle diseases with variable severity. Population-based prevalence estimates have been reported but pooled estimates are not available. Here, the authors performed a systematic review of worldwide population-based studies reporting muscular dystrophies prevalence and/or incidence using MEDLINE and EMBASE databases. The search strategy included key terms related … [Read more]
A new penetrant and specific test to diagnose Giant Axonal Neuropathy
The BTB-KELCH protein Gigaxonin plays key roles in sustaining neuron survival and cytoskeleton architecture. Indeed, recessive mutations in the Gigaxonin-encoding gene cause Giant Axonal Neuropathy (GAN), a severe neurodegenerative disorder characterized by a wide disorganization of the Intermediate Filament network. Growing evidence suggests that GAN is a continuum with the peripheral neuropathy Charcot-Marie-Tooth diseases type … [Read more]
Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease
Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, the authors report three observations … [Read more]
First human SMA gene transfer therapy trial opens
A phase I, single-site, dose escalation study to evaluate the safety and efficacy of gene transfer therapy in infants with for Spinal Muscular Atrophy Type 1 (SMA1) who are 9 months old or younger has opened at Nationwide Children’s Hospital in Columbus, Ohio. A total of nine patients will be randomly assigned to receive either … [Read more]
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
This study aimed to clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. The authors screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, … [Read more]
